Rosário Santos
7PUBLICATIONS
20CO-AUTHORS
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Publications (7)
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|Sep 09, 2022
Thrombocytopenia-Absent Radius Syndrome: Descriptions of Three New Cases and a Novel Splicing Variant in RBM8A That Expands the Spectrum of Null Alleles.Catarina Monteiro, Ana Gonçalves, Jorge Oliveira
|Jan 21, 2022
Can the Synergic Contribution of Multigenic Variants Explain the Clinical and Cellular Phenotypes of a Neurodevelopmental Disorder?Nuno Maia, Maria João Nabais Sá, Cláudia Oliveira
|Jan 11, 2022
Integrating Whole-Genome Sequencing in Clinical Genetics: A Novel Disruptive Structural Rearrangement Identified in the Dystrophin Gene (DMD).Ana Gonçalves, Ana Fortuna, Yavuz Ariyurek
|Nov 27, 2021
CalDAG-GEFI Deficiency in a Family with Symptomatic Heterozygous and Homozygous Carriers of a Likely Pathogenic Variant in RASGRP2.Sara Morais, Mónica Pereira, Catarina Lau
|Dec 28, 2020
Usher syndrome and Nebulin-associated myopathy in a single patient due to variants in MYO7A and NEB.Nuno Maia, Ana Rita Soares, Ana Maria Fortuna
|Aug 25, 2019
Clinical and Genetic Analysis of Children with Kartagener Syndrome.Rute Pereira, Telma Barbosa, Luís Gales
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Frequent Collaborators
5 joint publications
Jorge Oliveira
2 joint publications
Nuno Maia
2 joint publications
Ana Gonçalves
2 joint publications
Paula Jorge
2 joint publications
Arjan P M de Brouwer
1 joint publications
Ricardo Taipa
1 joint publications
Rute Pereira
1 joint publications
Luís Gales
1 joint publications
Ana Rita Soares
1 joint publications
Ana Maria Fortuna
